Mutagenetix > Incidental Mutation

Incidental Mutation 'R4686:Srp68'

353689

Institutional Source

Beutler Lab

Gene Symbol

Srp68

Ensembl Gene

ENSMUSG00000020780

Gene Name

signal recognition particle 68

Synonyms

2610024I03Rik

MMRRC Submission

041937-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116135992-116165043 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116156227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 172 (C172S)

Ref Sequence

ENSEMBL: ENSMUSP00000021133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021133] [ENSMUST00000106425]

AlphaFold

Q8BMA6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021133
AA Change: C172S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021133
Gene: ENSMUSG00000020780
AA Change: C172S

Domain	Start	End	E-Value	Type
low complexity region	9	34	N/A	INTRINSIC
Pfam:SRP68	74	596	5.5e-156	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106425
AA Change: C134S

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102033
Gene: ENSMUSG00000020780
AA Change: C134S

Domain	Start	End	E-Value	Type
low complexity region	9	34	N/A	INTRINSIC
PDB:4P3F\|B	46	215	1e-112	PDB
Blast:TPR	149	182	5e-15	BLAST
Blast:TPR	424	457	1e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128808

Meta Mutation Damage Score

0.3567

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,983,837 (GRCm39)	N411S	probably damaging	Het
Adnp	A	C	2: 168,024,309 (GRCm39)	C995W	possibly damaging	Het
Akap6	CA	C	12: 52,934,406 (GRCm39)		probably null	Het
Ano2	T	G	6: 125,767,254 (GRCm39)	I228M	probably benign	Het
Arhgap21	T	C	2: 20,868,033 (GRCm39)	D830G	probably damaging	Het
Atp13a2	G	A	4: 140,730,587 (GRCm39)		probably null	Het
Ccdc175	C	T	12: 72,159,052 (GRCm39)	S629N	probably damaging	Het
Cdhr4	T	C	9: 107,872,883 (GRCm39)	W311R	probably benign	Het
Chaf1b	A	G	16: 93,681,472 (GRCm39)	H30R	probably benign	Het
Clnk	G	A	5: 38,899,180 (GRCm39)		probably benign	Het
Copb1	A	G	7: 113,820,971 (GRCm39)	S773P	possibly damaging	Het
Cse1l	A	G	2: 166,774,080 (GRCm39)	D198G	probably damaging	Het
Ears2	A	G	7: 121,647,427 (GRCm39)	S286P	probably damaging	Het
Efcab7	A	G	4: 99,735,318 (GRCm39)	E114G	probably benign	Het
Fanca	G	C	8: 123,995,673 (GRCm39)		probably benign	Het
Flt3	A	G	5: 147,313,858 (GRCm39)	L64P	probably damaging	Het
Gabrb1	A	G	5: 71,857,365 (GRCm39)	T3A	possibly damaging	Het
Gm10384	T	C	15: 36,871,897 (GRCm39)		noncoding transcript	Het
Gm5117	G	A	8: 32,229,284 (GRCm39)		noncoding transcript	Het
Gpr141	T	A	13: 19,935,951 (GRCm39)	I275F	probably benign	Het
Greb1l	A	T	18: 10,522,112 (GRCm39)	E736V	probably damaging	Het
Hc	T	C	2: 34,929,260 (GRCm39)	E279G	possibly damaging	Het
Hivep1	C	T	13: 42,309,326 (GRCm39)	T522M	probably benign	Het
Hspa12a	T	A	19: 58,788,181 (GRCm39)	E547V	possibly damaging	Het
Il10ra	A	G	9: 45,180,357 (GRCm39)	L5S	probably damaging	Het
Iqcf6	G	T	9: 106,504,543 (GRCm39)	W69L	probably damaging	Het
Iqgap2	T	C	13: 95,858,117 (GRCm39)	N379S	probably damaging	Het
Itpr2	A	G	6: 146,131,273 (GRCm39)	I1977T	probably damaging	Het
Kcnq1	A	T	7: 142,661,466 (GRCm39)	Y124F	probably benign	Het
Lamp5	C	T	2: 135,900,923 (GRCm39)	T41M	probably damaging	Het
Lgr5	A	G	10: 115,294,648 (GRCm39)		probably benign	Het
Mlec	A	G	5: 115,288,355 (GRCm39)	I167T	possibly damaging	Het
Myf6	A	G	10: 107,329,689 (GRCm39)	V198A	probably benign	Het
Nceh1	C	T	3: 27,295,818 (GRCm39)	R360C	probably damaging	Het
Nos2	C	A	11: 78,819,456 (GRCm39)	T56N	possibly damaging	Het
Npw	T	G	17: 24,876,386 (GRCm39)	H175P	probably benign	Het
Nrxn3	A	T	12: 89,477,421 (GRCm39)	I899F	probably damaging	Het
Ociad1	A	G	5: 73,464,078 (GRCm39)	T179A	possibly damaging	Het
Or1e19	A	G	11: 73,316,264 (GRCm39)	S182P	probably benign	Het
Or52b4	A	G	7: 102,184,356 (GRCm39)	Y134C	probably damaging	Het
Or8b48	T	A	9: 38,493,327 (GRCm39)	F251L	probably damaging	Het
Pacsin2	T	C	15: 83,265,976 (GRCm39)	N74D	probably benign	Het
Pcdh7	A	G	5: 58,286,511 (GRCm39)	I1196V	probably benign	Het
Pdxk	A	T	10: 78,282,837 (GRCm39)		probably null	Het
Phb2	G	A	6: 124,690,105 (GRCm39)		probably null	Het
Pus7l	T	A	15: 94,438,092 (GRCm39)	N251I	probably damaging	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Runx2	T	A	17: 44,950,572 (GRCm39)	D327V	probably damaging	Het
Stk25	A	G	1: 93,551,142 (GRCm39)		probably null	Het
Tbrg4	C	T	11: 6,568,468 (GRCm39)	R437Q	probably benign	Het
Tedc2	C	T	17: 24,436,862 (GRCm39)		probably null	Het
Teddm1a	T	A	1: 153,768,196 (GRCm39)	I220N	probably damaging	Het
Thoc1	G	T	18: 9,970,312 (GRCm39)	E221*	probably null	Het
Tmem132d	G	T	5: 127,869,674 (GRCm39)	D553E	possibly damaging	Het
Topors	A	T	4: 40,261,694 (GRCm39)	V530D	probably benign	Het
Tpx2	T	C	2: 152,731,103 (GRCm39)	V515A	possibly damaging	Het
Trim24	A	G	6: 37,885,240 (GRCm39)	H191R	probably damaging	Het
Ttn	G	A	2: 76,567,914 (GRCm39)	R27660W	probably damaging	Het
Vmn1r203	T	C	13: 22,708,528 (GRCm39)	L103P	probably damaging	Het
Vmn1r233	C	T	17: 21,214,368 (GRCm39)	S194N	probably benign	Het
Vmn2r108	T	C	17: 20,691,636 (GRCm39)	K296E	probably damaging	Het
Vmn2r88	G	A	14: 51,650,796 (GRCm39)	E170K	probably benign	Het
Zfp740	C	T	15: 102,117,184 (GRCm39)		probably benign	Het
Zmym5	A	G	14: 57,049,618 (GRCm39)		probably benign	Het

Other mutations in Srp68

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:Srp68	APN	11	116,138,638 (GRCm39)	splice site	probably benign
IGL02974:Srp68	APN	11	116,137,051 (GRCm39)	missense	probably benign	0.31
tipsy	UTSW	11	116,136,638 (GRCm39)	missense	probably damaging	1.00
P0028:Srp68	UTSW	11	116,151,746 (GRCm39)	missense	probably damaging	0.99
R0211:Srp68	UTSW	11	116,156,377 (GRCm39)	missense	probably damaging	1.00
R0211:Srp68	UTSW	11	116,156,377 (GRCm39)	missense	probably damaging	1.00
R0468:Srp68	UTSW	11	116,139,590 (GRCm39)	missense	probably damaging	0.98
R0796:Srp68	UTSW	11	116,137,509 (GRCm39)	missense	probably benign	0.12
R1291:Srp68	UTSW	11	116,154,107 (GRCm39)	missense	probably damaging	1.00
R1906:Srp68	UTSW	11	116,141,587 (GRCm39)	missense	probably damaging	1.00
R2149:Srp68	UTSW	11	116,151,693 (GRCm39)	missense	possibly damaging	0.93
R3732:Srp68	UTSW	11	116,164,782 (GRCm39)	nonsense	probably null
R4651:Srp68	UTSW	11	116,164,840 (GRCm39)	missense	probably benign
R4652:Srp68	UTSW	11	116,164,840 (GRCm39)	missense	probably benign
R4924:Srp68	UTSW	11	116,151,684 (GRCm39)	missense	probably damaging	1.00
R5077:Srp68	UTSW	11	116,136,638 (GRCm39)	missense	probably damaging	1.00
R5095:Srp68	UTSW	11	116,139,573 (GRCm39)	missense	probably damaging	0.98
R5166:Srp68	UTSW	11	116,156,300 (GRCm39)	missense	probably damaging	0.99
R5167:Srp68	UTSW	11	116,156,300 (GRCm39)	missense	probably damaging	0.99
R5168:Srp68	UTSW	11	116,156,300 (GRCm39)	missense	probably damaging	0.99
R5769:Srp68	UTSW	11	116,137,495 (GRCm39)	missense	probably damaging	1.00
R6379:Srp68	UTSW	11	116,156,227 (GRCm39)	missense	probably damaging	1.00
R6577:Srp68	UTSW	11	116,156,290 (GRCm39)	missense	probably damaging	1.00
R6777:Srp68	UTSW	11	116,153,730 (GRCm39)	missense	probably damaging	1.00
R7089:Srp68	UTSW	11	116,162,733 (GRCm39)	splice site	probably null
R7561:Srp68	UTSW	11	116,139,593 (GRCm39)	missense	probably damaging	0.99
R7823:Srp68	UTSW	11	116,156,265 (GRCm39)	missense	probably damaging	1.00
R7854:Srp68	UTSW	11	116,144,909 (GRCm39)	splice site	probably null
R8206:Srp68	UTSW	11	116,164,809 (GRCm39)	missense	probably damaging	0.98
R8407:Srp68	UTSW	11	116,143,589 (GRCm39)	missense	probably benign	0.00
Z1088:Srp68	UTSW	11	116,164,861 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GATACACTAACTTAGCCCTTCAAAG -3'
(R):5'- ACTGTACCTCAGAGTGCACTGG -3'

Sequencing Primer
(F):5'- TTAGCCCTTCAAAGAAAAATCGG -3'
(R):5'- AGTGCACTGGGCCCTTGTTC -3'

Posted On

2015-10-21